Case Report: Amyloidosis Cutis Dyschromica: Dermoscopy and Reflectance Confocal Microscopy and Gene Mutation Analysis of a Chinese Pedigree

Background: Amyloidosis cutis dyschromica (ACD) is a rare type of primary localized cutaneous amyloidosis. Non-invasive techniques can provide important clues for early diagnosis.Objectives: To highlight the characteristic imaging changes of ACD under dermoscopy and reflectance confocal microscopy (...

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Autores principales:	Hui Wang, Zhenyu Zhong, Xiuli Wang, Liyun Zheng, Yifan Wang, Shan Wang, Siqi Liu, Hui Li, Ze Guo, Min Gao
Formato:	article
Lenguaje:	EN
Publicado:	Frontiers Media S.A. 2021
Materias:	amyloidosis cutis dyschromica dermoscopy reflectance confocal microscopy non-invasive techniques mutation Medicine (General) R5-920
Acceso en línea:	https://doaj.org/article/594d2b567210414891a44cba681e9183
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spelling	oai:doaj.org-article:594d2b567210414891a44cba681e91832021-12-01T21:43:59ZCase Report: Amyloidosis Cutis Dyschromica: Dermoscopy and Reflectance Confocal Microscopy and Gene Mutation Analysis of a Chinese Pedigree2296-858X10.3389/fmed.2021.774266https://doaj.org/article/594d2b567210414891a44cba681e91832021-12-01T00:00:00Zhttps://www.frontiersin.org/articles/10.3389/fmed.2021.774266/fullhttps://doaj.org/toc/2296-858XBackground: Amyloidosis cutis dyschromica (ACD) is a rare type of primary localized cutaneous amyloidosis. Non-invasive techniques can provide important clues for early diagnosis.Objectives: To highlight the characteristic imaging changes of ACD under dermoscopy and reflectance confocal microscopy (RCM), investigate gene mutations in a Chinese Han pedigree of ACD, and analyze the genotype–phenotype correlation.Methods: Dermoscopy and RCM examinations were completed together for the pedigree, and the imaging characteristics were described. The diagnosis of ACD was confirmed by pathological examination. Sequencing was performed followed by bioinformatics and genotype–phenotype correlation. ACD-related articles published on PubMed between January 1970 and March 2021 were reviewed and summarized.Results: In ACD, dermoscopy showed patchy white hypopigmentation and brownish spots, stripes, or hyperpigmented blotches and patches. RCM showed a highly refractive substance with clumpy, dotted, and linear structures inside the papillary dermis. Sequencing identified glycoprotein non-metastatic melanoma protein B (GPNMB) missense mutations [c.393T>G (p.Y131X; NM_001005340.2)] and a frameshift deletion mutation [c.719_720delTG (p.V240fs; NM_001005340.2)]. The ANNOtate VARiation (ANNOVAR) software predicted that c.393T>G is a pathogenic mutation. The literature review found 14 mutations, namely, 5 (35.7%) frameshift mutations, 4 (28.6%) non-sense mutations, 4 (28.6%) missense mutations, and 1 (7.1%) splice site mutation. Blisters and epidermolysis were observed in several cases, but there was no significant association between clinical manifestations and mutations in ACD.Conclusions: This study was the first to combine dermoscopy and RCM to describe ACD. Two GPNMB gene mutations were reported in a Chinese ACD pedigree. The genotype–phenotype correlation was analyzed for the first time; however, there was no significant correlation.Hui WangHui WangHui WangHui WangHui WangZhenyu ZhongZhenyu ZhongZhenyu ZhongZhenyu ZhongZhenyu ZhongXiuli WangXiuli WangXiuli WangXiuli WangXiuli WangLiyun ZhengLiyun ZhengLiyun ZhengLiyun ZhengLiyun ZhengYifan WangYifan WangYifan WangYifan WangYifan WangShan WangShan WangShan WangShan WangShan WangSiqi LiuSiqi LiuSiqi LiuSiqi LiuSiqi LiuHui LiHui LiHui LiHui LiHui LiZe GuoZe GuoZe GuoZe GuoZe GuoMin GaoMin GaoMin GaoMin GaoMin GaoFrontiers Media S.A.articleamyloidosis cutis dyschromicadermoscopyreflectance confocal microscopynon-invasive techniquesmutationMedicine (General)R5-920ENFrontiers in Medicine, Vol 8 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	amyloidosis cutis dyschromica dermoscopy reflectance confocal microscopy non-invasive techniques mutation Medicine (General) R5-920
spellingShingle	amyloidosis cutis dyschromica dermoscopy reflectance confocal microscopy non-invasive techniques mutation Medicine (General) R5-920 Hui Wang Hui Wang Hui Wang Hui Wang Hui Wang Zhenyu Zhong Zhenyu Zhong Zhenyu Zhong Zhenyu Zhong Zhenyu Zhong Xiuli Wang Xiuli Wang Xiuli Wang Xiuli Wang Xiuli Wang Liyun Zheng Liyun Zheng Liyun Zheng Liyun Zheng Liyun Zheng Yifan Wang Yifan Wang Yifan Wang Yifan Wang Yifan Wang Shan Wang Shan Wang Shan Wang Shan Wang Shan Wang Siqi Liu Siqi Liu Siqi Liu Siqi Liu Siqi Liu Hui Li Hui Li Hui Li Hui Li Hui Li Ze Guo Ze Guo Ze Guo Ze Guo Ze Guo Min Gao Min Gao Min Gao Min Gao Min Gao Case Report: Amyloidosis Cutis Dyschromica: Dermoscopy and Reflectance Confocal Microscopy and Gene Mutation Analysis of a Chinese Pedigree
description	Background: Amyloidosis cutis dyschromica (ACD) is a rare type of primary localized cutaneous amyloidosis. Non-invasive techniques can provide important clues for early diagnosis.Objectives: To highlight the characteristic imaging changes of ACD under dermoscopy and reflectance confocal microscopy (RCM), investigate gene mutations in a Chinese Han pedigree of ACD, and analyze the genotype–phenotype correlation.Methods: Dermoscopy and RCM examinations were completed together for the pedigree, and the imaging characteristics were described. The diagnosis of ACD was confirmed by pathological examination. Sequencing was performed followed by bioinformatics and genotype–phenotype correlation. ACD-related articles published on PubMed between January 1970 and March 2021 were reviewed and summarized.Results: In ACD, dermoscopy showed patchy white hypopigmentation and brownish spots, stripes, or hyperpigmented blotches and patches. RCM showed a highly refractive substance with clumpy, dotted, and linear structures inside the papillary dermis. Sequencing identified glycoprotein non-metastatic melanoma protein B (GPNMB) missense mutations [c.393T>G (p.Y131X; NM_001005340.2)] and a frameshift deletion mutation [c.719_720delTG (p.V240fs; NM_001005340.2)]. The ANNOtate VARiation (ANNOVAR) software predicted that c.393T>G is a pathogenic mutation. The literature review found 14 mutations, namely, 5 (35.7%) frameshift mutations, 4 (28.6%) non-sense mutations, 4 (28.6%) missense mutations, and 1 (7.1%) splice site mutation. Blisters and epidermolysis were observed in several cases, but there was no significant association between clinical manifestations and mutations in ACD.Conclusions: This study was the first to combine dermoscopy and RCM to describe ACD. Two GPNMB gene mutations were reported in a Chinese ACD pedigree. The genotype–phenotype correlation was analyzed for the first time; however, there was no significant correlation.
format	article
author	Hui Wang Hui Wang Hui Wang Hui Wang Hui Wang Zhenyu Zhong Zhenyu Zhong Zhenyu Zhong Zhenyu Zhong Zhenyu Zhong Xiuli Wang Xiuli Wang Xiuli Wang Xiuli Wang Xiuli Wang Liyun Zheng Liyun Zheng Liyun Zheng Liyun Zheng Liyun Zheng Yifan Wang Yifan Wang Yifan Wang Yifan Wang Yifan Wang Shan Wang Shan Wang Shan Wang Shan Wang Shan Wang Siqi Liu Siqi Liu Siqi Liu Siqi Liu Siqi Liu Hui Li Hui Li Hui Li Hui Li Hui Li Ze Guo Ze Guo Ze Guo Ze Guo Ze Guo Min Gao Min Gao Min Gao Min Gao Min Gao
author_facet	Hui Wang Hui Wang Hui Wang Hui Wang Hui Wang Zhenyu Zhong Zhenyu Zhong Zhenyu Zhong Zhenyu Zhong Zhenyu Zhong Xiuli Wang Xiuli Wang Xiuli Wang Xiuli Wang Xiuli Wang Liyun Zheng Liyun Zheng Liyun Zheng Liyun Zheng Liyun Zheng Yifan Wang Yifan Wang Yifan Wang Yifan Wang Yifan Wang Shan Wang Shan Wang Shan Wang Shan Wang Shan Wang Siqi Liu Siqi Liu Siqi Liu Siqi Liu Siqi Liu Hui Li Hui Li Hui Li Hui Li Hui Li Ze Guo Ze Guo Ze Guo Ze Guo Ze Guo Min Gao Min Gao Min Gao Min Gao Min Gao
author_sort	Hui Wang
title	Case Report: Amyloidosis Cutis Dyschromica: Dermoscopy and Reflectance Confocal Microscopy and Gene Mutation Analysis of a Chinese Pedigree
title_short	Case Report: Amyloidosis Cutis Dyschromica: Dermoscopy and Reflectance Confocal Microscopy and Gene Mutation Analysis of a Chinese Pedigree
title_full	Case Report: Amyloidosis Cutis Dyschromica: Dermoscopy and Reflectance Confocal Microscopy and Gene Mutation Analysis of a Chinese Pedigree
title_fullStr	Case Report: Amyloidosis Cutis Dyschromica: Dermoscopy and Reflectance Confocal Microscopy and Gene Mutation Analysis of a Chinese Pedigree
title_full_unstemmed	Case Report: Amyloidosis Cutis Dyschromica: Dermoscopy and Reflectance Confocal Microscopy and Gene Mutation Analysis of a Chinese Pedigree
title_sort	case report: amyloidosis cutis dyschromica: dermoscopy and reflectance confocal microscopy and gene mutation analysis of a chinese pedigree
publisher	Frontiers Media S.A.
publishDate	2021
url	https://doaj.org/article/594d2b567210414891a44cba681e9183
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Case Report: Amyloidosis Cutis Dyschromica: Dermoscopy and Reflectance Confocal Microscopy and Gene Mutation Analysis of a Chinese Pedigree

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